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A 30-year history of MPAN case from Russia.

Selikhova, M; Fedotova, E; Wiethoff, S; Schottlaender, L V; Klyushnikov, S; Illarioshkin, S N; Houlden, H.

Clin Neurol Neurosurg ; 159: 111-113, 2017 Aug.

Article in English | MEDLINE | ID: mdl-28641177

ABSTRACT

We present a patient with progressive spastic ataxia, with dystonia and anarthria undiagnosed until detailed genetic analysis revealed an MPAN mutation. Highlighting the worldwide MPAN distribution, a 30year history of absent diagnosis and the impact and cost saving of an early but detailed genetic analysis in complex progressive movement disorders, particularly the anarthric NBIA group.

Subject(s)

Intellectual Disability/diagnostic imaging , Intellectual Disability/genetics , Mitochondrial Membrane Transport Proteins/genetics , Mitochondrial Proteins/genetics , Muscle Spasticity/diagnostic imaging , Muscle Spasticity/genetics , Optic Atrophy/diagnostic imaging , Optic Atrophy/genetics , Spinocerebellar Ataxias/diagnostic imaging , Spinocerebellar Ataxias/genetics , Adult , Female , Humans , Russia , Time Factors

ABSTRACT

Subject(s)

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